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The phenotype associated with a large deletion on MECP2
Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene allowing genetic confirmation of previously unconfirmed cases of clinical Rett syndrome. This study describes the phenotype of those with a large deletion and compares...
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| Autores principales: | , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Nature Publishing Group
2012
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3421119/ https://ncbi.nlm.nih.gov/pubmed/22473088 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.34 |
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